Genetic analysis in Leber's hereditary optic neuropathy using the comparative genomic hybridization technique

May Yung Yen*, Yann Jang Chen, Chi Hung Lin, An Guor Wang, Yau Huei Wei

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

Background: Nuclear genes are suggested to be involved in the pathogenesis of Leber's hereditary optic neuropathy (LHON) but it has not been confirmed. The aim of the present study was to investigate chromosomal abnormalities associated with LHON. Methods: In a prospective study, comparative genomic hybridization (CGH) was used to analyse genetic changes in five patients with LHON with an I 1778 mitochondrial DNA mutation and three asymptomatic maternal relatives. Results: There were no significant genetic copy number alterations detected in the five visually affected patients or in the three unaffected maternal relatives as compared to unrelated normal controls. Conclusion: The CGH technique did not detect any chromosomal abnormalities in LHON patients or in unaffected relatives. Nuclear gene involvement, however, cannot be ruled out.

Original languageEnglish
Pages (from-to)435-438
Number of pages4
JournalClinical and Experimental Ophthalmology
Volume31
Issue number5
DOIs
StatePublished - Oct 2003

Keywords

  • Comparative genomic hybridization
  • Leber's hereditary optic neuropathy
  • Mitochondrial DNA
  • X-linked susceptibility locus

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